Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups
Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21
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The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.
PMID 19784393 · PMC2751802 · Molecular vision · 2009 · 6 claims · 4 setups
A novel MYOC missense mutation, Y371D (1111t→g), causes an aggressive, autosomal dominant form of JOAG in this family.
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups
CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations